BRCA1/2: Why men should be screened for the ‘breast cancer gene’

July 26, 2024
In men, BRCA1 and BRCA2 gene mutations are associated with greater risk of prostate, pancreatic, and breast cancers.

More and more studies show that men face risks of cancer from BRCA1 and BRCA2 genetic mutations that are most often associated with breast and ovarian cancers in women. 

According to a July 25 JAMA Oncology review article by experts at Fred Hutch Cancer Center and University of Washington, newly developed national screening guidelines offer hope for identifying the cancer risk of BRCA mutations in men through genetic testing and tailored cancer screening.

“Not enough men are getting genetic testing to see if they carry a BRCA1 or BRCA2 gene variant that increases their cancer risk," said lead author Heather Cheng, MD, PhD, the director of the Fred Hutch Prostate Cancer Genetics Clinic. “And the men who know they are carriers get tested for their daughters, but don’t always know why it’s important for their own health.”

The article reviews the most recent screening and treatment guidelines for men carrying an inherited damaging variant in two genes, BRCA1 and BRCA2. The review includes updated recommendations for males with a family history of cancer and other risk factors that could help them, and their doctors understand cancer risks.

Men account for 50% of BRCA1/2 carriers and have an increased risk for prostate and other cancers; however current rate of testing for men is only one-tenth of the rate for women.

Because genes are inherited from generation to generation, there is a fifty percent chance that a male carrier of a BRCA1 or BRCA2 mutation shares this mutated gene with their biological offspring. The earlier people are aware of the possibility of carrying a BRCA1 or BRCA2 mutation, the more their medical care can be personalized and tailored to their specific situation: a hallmark of the promise of personalized medicine.

Despite the increased cancer risk for BRCA1 or BRCA2-carrying males, national guidelines on genetic testing and cancer screening have been slower to emerge for males, and national guidelines are now beginning to include more specific measures for males.

With less public awareness of the risk for males carrying BRCA1 or BRCA2 mutations, physicians and other healthcare professionals may not always be aware of the most up-to-date screening recommendations, which may exist in different places.

Fred Hutch Cancer Center release on Newswise